Incidental Mutation 'IGL02901:Rabggta'
| ID |
363586 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rabggta
|
| Ensembl Gene |
ENSMUSG00000040472 |
| Gene Name |
Rab geranylgeranyl transferase, a subunit |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL02901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55953321-55959720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55959138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 10
(S10P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062861]
[ENSMUST00000163889]
[ENSMUST00000169237]
[ENSMUST00000227061]
|
| AlphaFold |
Q9JHK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062861
|
| SMART Domains |
Protein: ENSMUSP00000061498
Gene: ENSMUSG00000040472
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPTA
|
47 |
77 |
2.9e-8 |
PFAM |
|
Pfam:PPTA
|
91 |
121 |
2e-12 |
PFAM |
|
Pfam:PPTA
|
127 |
156 |
7.6e-11 |
PFAM |
|
Pfam:PPTA
|
162 |
192 |
3.8e-12 |
PFAM |
|
Pfam:PPTA
|
210 |
240 |
7.8e-12 |
PFAM |
|
Pfam:RabGGT_insert
|
243 |
346 |
5.3e-47 |
PFAM |
|
LRR
|
462 |
485 |
1.62e0 |
SMART |
|
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163889
AA Change: S10P
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128668
Gene: ENSMUSG00000040472
AA Change: S10P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPTA
|
47 |
77 |
2.9e-8 |
PFAM |
|
Pfam:PPTA
|
91 |
121 |
2e-12 |
PFAM |
|
Pfam:PPTA
|
127 |
156 |
7.6e-11 |
PFAM |
|
Pfam:PPTA
|
162 |
192 |
3.8e-12 |
PFAM |
|
Pfam:PPTA
|
210 |
240 |
7.8e-12 |
PFAM |
|
Pfam:RabGGT_insert
|
243 |
346 |
5.3e-47 |
PFAM |
|
LRR
|
462 |
485 |
1.62e0 |
SMART |
|
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169237
AA Change: S10P
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133032
Gene: ENSMUSG00000040472
AA Change: S10P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPTA
|
92 |
119 |
3.6e-12 |
PFAM |
|
Pfam:PPTA
|
128 |
154 |
1.2e-10 |
PFAM |
|
Pfam:PPTA
|
163 |
190 |
2e-11 |
PFAM |
|
Pfam:PPTA
|
211 |
238 |
9e-12 |
PFAM |
|
Pfam:RabGGT_insert
|
244 |
346 |
1.9e-46 |
PFAM |
|
LRR
|
462 |
485 |
1.62e0 |
SMART |
|
LRR
|
507 |
531 |
1.03e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227061
AA Change: S10P
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228899
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes exhibit diluted pigmentation, a platelet defect resulting in prolonged bleeding, macrothrombocytopenia, impaired killing by cytotoxic T lymphocytes, high mortality, and poor breeding. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
T |
2: 131,403,524 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,792,245 (GRCm39) |
D1162G |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,439,482 (GRCm39) |
M637T |
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,992 (GRCm39) |
A440T |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,532 (GRCm39) |
V51E |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,522,529 (GRCm39) |
V164E |
probably damaging |
Het |
| Cox6a2 |
A |
C |
7: 127,805,454 (GRCm39) |
L5R |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,483,696 (GRCm39) |
L849* |
probably null |
Het |
| Dclk1 |
A |
G |
3: 55,395,208 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,627,964 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
G |
6: 24,454,194 (GRCm39) |
L563P |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,528,772 (GRCm39) |
I300F |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,844,583 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,747,632 (GRCm39) |
I411T |
probably benign |
Het |
| Misp |
A |
T |
10: 79,662,771 (GRCm39) |
Y396F |
possibly damaging |
Het |
| Nhsl2 |
T |
A |
X: 101,122,849 (GRCm39) |
V884D |
probably benign |
Het |
| Nxf7 |
A |
T |
X: 134,487,984 (GRCm39) |
|
probably null |
Het |
| Or10al4 |
T |
A |
17: 38,037,311 (GRCm39) |
I132K |
probably damaging |
Het |
| Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
| Palld |
T |
A |
8: 62,330,029 (GRCm39) |
K283* |
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Proc |
T |
G |
18: 32,256,678 (GRCm39) |
T330P |
possibly damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,615 (GRCm39) |
D221G |
probably damaging |
Het |
| Prss55 |
T |
A |
14: 64,314,576 (GRCm39) |
N198I |
probably damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,289 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,215,614 (GRCm39) |
V115A |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,649,207 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,787,347 (GRCm39) |
N751S |
probably damaging |
Het |
| Upk1a |
A |
T |
7: 30,303,204 (GRCm39) |
M241K |
possibly damaging |
Het |
| Vmn2r71 |
A |
C |
7: 85,268,470 (GRCm39) |
E224D |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,106,564 (GRCm39) |
T514I |
probably damaging |
Het |
| Zkscan16 |
T |
C |
4: 58,946,283 (GRCm39) |
W53R |
probably damaging |
Het |
|
| Other mutations in Rabggta |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01876:Rabggta
|
APN |
14 |
55,956,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02263:Rabggta
|
APN |
14 |
55,956,418 (GRCm39) |
splice site |
probably benign |
|
|
IGL02293:Rabggta
|
APN |
14 |
55,959,153 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02377:Rabggta
|
APN |
14 |
55,955,952 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03004:Rabggta
|
APN |
14 |
55,956,687 (GRCm39) |
splice site |
probably benign |
|
|
R0334:Rabggta
|
UTSW |
14 |
55,958,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Rabggta
|
UTSW |
14 |
55,958,646 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2926:Rabggta
|
UTSW |
14 |
55,956,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4469:Rabggta
|
UTSW |
14 |
55,953,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5584:Rabggta
|
UTSW |
14 |
55,958,289 (GRCm39) |
missense |
probably benign |
|
|
R6721:Rabggta
|
UTSW |
14 |
55,954,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Rabggta
|
UTSW |
14 |
55,959,299 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7169:Rabggta
|
UTSW |
14 |
55,958,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7447:Rabggta
|
UTSW |
14 |
55,956,773 (GRCm39) |
missense |
probably null |
0.11 |
|
R7805:Rabggta
|
UTSW |
14 |
55,956,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8038:Rabggta
|
UTSW |
14 |
55,956,387 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8422:Rabggta
|
UTSW |
14 |
55,955,915 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9008:Rabggta
|
UTSW |
14 |
55,955,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Rabggta
|
UTSW |
14 |
55,957,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9050:Rabggta
|
UTSW |
14 |
55,959,056 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9232:Rabggta
|
UTSW |
14 |
55,956,745 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9301:Rabggta
|
UTSW |
14 |
55,957,083 (GRCm39) |
missense |
probably benign |
|
|
R9664:Rabggta
|
UTSW |
14 |
55,956,375 (GRCm39) |
nonsense |
probably null |
|
|
R9782:Rabggta
|
UTSW |
14 |
55,955,944 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2015-12-18 |
Incidental Mutation